胎儿肺动脉闭锁伴室间隔缺损的超声表现、合并畸形及染色体特征

摘要

Objective To analyze the echocardiographic findings , associated anomalies and chromosomal characteristics in fetuses with pulmonary atresia with ventricular septal defect ( PA/VSD ) . Methods T he echocardiographic data and follow‐up materials were retrospectively reviewed in 30 256 fetuses from December 2012 to M arch 2018 in the consultation center of fetal heart disease in maternal‐fetal medicine in Anzhen hospital . Of all the fetuses ,59 cases ( 0 .19% ) had PA/VSD . T he echocardiographic findings ,associated anomalies and chromosomal characteristics were retrospectively analyzed in all the 59 fetuses with PA/VSD . Based on w hether the presence of the native pulmonary arteries and the major aortopulmonary collateral arteries ( M APCAs) or not ,the PA‐VSD was classified into type A ,type B ,and type C . Results A large ventricular defect was demonstrated in five‐chamber view with 61 .7% of the mean ratio of the aortic overriding . O ther fetal echocardiographic features of all the 59 fetuses with PA/VSD included :the right aortic arch ( n ＝19 ) ,reversal flow in the ductus arteriosus ( n ＝40 ) ,M APCAs ( n ＝24) . T he classification of the PA/VSD included :type A ( n ＝35) ,type B ( n ＝5) and type C ( n ＝19) . Associated anomalies :persistent left superior vena cava ( n ＝ 13 ) ,anomalous pulmonary vein connection ( n＝5 ) ,complete atrioventricular septal defect ( n ＝ 5 ) ; single umbilical artery ( n ＝ 3 ) ,right atrial isomerism ( n ＝3) . Of all the 30 cases performed chromosomal test ,3 cases had aneuploidy and 7 cases had microdeletion of chromosome . Conclusions The fetal echocardiographic findings of the PA/VSD are characteristic . For prenatal diagnosis of PA/VSD ,the type of PA/VSD should be defined and chromosomal test should be performed ,w hich can be helpful for prenatal consulting .%目的 分析胎儿肺动脉闭锁伴室间隔缺损(PA／VSD )的超声表现、合并畸形及遗传学特征.方法 回顾分析2012年12月至2018年3月,于安贞医院胎儿心脏病母胎医学会诊中心共检查胎儿心脏的30 526例,其中PA／VSD胎儿59例(0 .19%) .分析59例PA／VSD胎儿超声表现、合并畸形及遗传学特征.根据是否存在自身肺动脉和粗大主－肺动脉侧支血管(M APCAs) ,将PA／VSD 分为A型、 B型和C型.结果 59例 PA／VSD 中,五腔心切面均显示室间隔缺损且主动脉平均骑跨率为61 .7%.其他超声心动图特征包括:右位主动脉弓19例,动脉导管逆灌40例;胸降主动脉粗大侧支循环24例. PA／VSD类型: A型35例, B型5例, C型19例.合并畸形:永存左侧上腔静脉13例,肺静脉异位引流5例,完全型心内膜垫缺损5例;单脐动脉3例,右侧异构3例. 30例进行了遗传学检查,3例患有染色体非整倍体异常,7例患有染色体微缺失.结论 PA／VSD超声心动图表现具有特征性,如产前诊断PA／VSD ,应明确类型并进行染色体检查,将有助于产前预后咨询.